title: Immunologic features of Cornelia de Lange syndrome.
abstract: OBJECTIVE
  Cornelia de Lange syndrome (CdLS) is a genetic syndrome with multisystem abnormalities. Infections are a significant cause of morbidity and mortality. The goals of our study were to identify the frequency and types of infections in CdLS and to determine if underlying immunodeficiency contributes to the clinical spectrum of this syndrome.
  
  
  METHODS
  We assessed infectious histories in 45 patients with CdLS and evaluated conventional immunologic screening tests in 27 patients. Among these 27 subjects, additional phenotypic enumeration of T-cell subsets, expression of activation markers in T cells, and production of cytokines in response to T-cell stimulants were studied in 12 CdLS subjects compared with 12 normal case control subjects.
  
  
  RESULTS
  Recurrent infections were reported at high frequency in CdLS patients and included chronic ear infections (53%), chronic viral respiratory infections (46%), pneumonia (42%), sinus infections (33%), oral candidiasis (13%), sepsis (6%), and bacterial skin infections (4%). Full immune evaluation in 27 subjects led to identification of 9 cases of antibody deficiency syndrome in patients with severe forms of CdLS. Subjects with CdLS had decreased percentages of T regulatory cells and T follicular helper cells compared with normal control subjects (P < .05).
  
  
  CONCLUSIONS
  This study identified for the first time a high frequency of antibody deficiency in CdLS subjects, indicating a critical need for screening and management of immunodeficiency in CdLS patients with a history of well-documented severe or recurrent infections. Furthermore, our results indicate that impaired T-cell populations may be associated with antibody deficiency in CdLS.
authors.affiliation: Division of Allergy and Immunology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. jyonouchi@email.chop.edu
authors.forename: Soma
authors.initials: S
authors.lastname: Jyonouchi
authors.forename: Jordan
authors.initials: J
authors.lastname: Orange
authors.forename: Kathleen E
authors.initials: KE
authors.lastname: Sullivan
authors.forename: Ian
authors.initials: I
authors.lastname: Krantz
authors.forename: Matthew
authors.initials: M
authors.lastname: Deardorff
mesh_terms: D000293:Adolescent; D000328:Adult; D018797:Cell Cycle Proteins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics; D003430:Cross-Sectional Studies; D016207:Cytokines / Q000097:blood; D004252:DNA Mutational Analysis; D003635:De Lange Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000276:immunology*; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000276:immunology*; D007159:Immunologic Tests; D007223:Infant; D008213:Lymphocyte Activation / Q000235:genetics / Q000276:immunology; D008297:Male; D050778:NFATC Transcription Factors / Q000235:genetics; D009894:Opportunistic Infections / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000276:immunology*; D015143:Philadelphia; D012333:RNA, Messenger / Q000235:genetics; D012008:Recurrence; D016176:T-Lymphocyte Subsets / Q000276:immunology; D055815:Young Adult; D000097722:Cohesins
chemical_list: D018797:Cell Cycle Proteins; D002868:Chromosomal Proteins, Non-Histone; D016207:Cytokines; D050778:NFATC Transcription Factors; D012333:RNA, Messenger; D000097722:Cohesins; C494006:NFATC2 protein, human
keywords: Cornelia de Lange syndrome; antibody; cohesin; immunodeficiency